A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715025



Internal ID21741346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38732694..38732694hg38UCSC Ensembl
chr6:38700470..38700470hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251003
Samples
Known GenesDNAH8
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5715025
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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